infantile Refsum disease
MeSH: D052919ORPHA: 772
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with infantile Refsum disease, sourced from HPO and Orphanet clinical annotations.
Visual impairmentRod-cone dystrophyNyctalopiaConstriction of peripheral visual fieldGlobal developmental delayFailure to thriveHepatomegalyProgressive muscle weaknessShort statureVery long chain fatty acid accumulationElevated circulating phytanic acid concentrationHearing impairmentSensorineural hearing impairmentNystagmusAtypical behaviorAtaxiaHypotoniaSpasticityAbnormality of the faceCataractOptic atrophySeizureCardiomyopathyAbnormal epiphysis morphologyIchthyosisFacial palsyArrhythmia
Classification & Codes
MeSH Code
D052919Orphanet Code
ORPHA:772infantile Refsum disease
| MeSH | D052919 |
| Orphanet | ORPHA:772 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO